Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV001333206 | SCV001525723 | uncertain significance | Recessive dystrophic epidermolysis bullosa | 2018-03-21 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |
Invitae | RCV002546617 | SCV003475371 | likely benign | not provided | 2024-01-04 | criteria provided, single submitter | clinical testing |